Neotenic formation in laboratory colonies of the termite Coptotermes gestroi after orphaning

The termite Coptotermes gestroi (Wasmann 1896) (Rhinotermitidae: Coptotermitinae) is an exotic species in Brazil and information concerning its reproductive developmental biology is scarce. We induced the formation of neotenics in laboratory colonies through orphaning experiments. Orphaning experiments were conducted in three-year old colonies of C. gestroi kept under laboratory conditions. After three months, eight nymphoid neotenics were observed in one colony after queen removal. Histological analysis showed that these neotenics were non-functional. The results suggest that these individuals may have arisen from the first nymphal instar (N1) or from an early N1 instar after one or two larval moults. Neotenics also were recorded on two incipient colonies of C. gestroi that lost the queen naturally

Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

AbstractEpilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown.Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile seizures plus (GEFS+).In this paper we report a patient presenting with an atypical epileptic syndrome whose phenotype partially overlaps both Dravet syndrome and benign familial neonatal-infantile seizures (BFNIS).Array-CGH analysis suggested the presence of a mosaic duplication (about 12Mb) at the level of chromosome 2q23.3q24.3 involving SCN2A and SCN3A genes. Additional analyses (radiolabeled RFLP and quantitative PCR) confirmed the mosaicism of the duplication.We suggest that the array-CGH analysis is mandatory for children presenting with epilepsy and psycho-motor retardation even without dysmorphisms or other clinical features suggesting a specific genetic/epileptic syndrome. The analysis must nevertheless be performed taking into account the possibility of a mosaicism

correction on the stability of manganese tris β diketonate complexes as redox mediators in dsscs

Correction for 'On the stability of manganese tris(β-diketonate) complexes as redox mediators in DSSCs' by Stefano Carli et al., Phys. Chem. Chem. Phys., 2016, 18, 5949–5956

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

The purpose of this study was to evaluate the distribution of the polymorphisms of the SCN1A gene in a series of children and adolescents with primary headache and idiopathic or cryptogenic epilepsy compared to controls. Five non-synonymous exonic polymorphisms (1748A > T, 2656T > C, 3199A > G, 5771G > A, 5864T > C) of the SCN1A gene were selected and their genotyping was performed, by high resolution melting (HRM), in 49 cases and 100 controls. We found that among the five polymorphisms, only 3199A > G was a true polymorphism. We did not find a statistically significant difference between distribution of 3199A > G genotypes between cases and controls. We excluded the role of the SCN1A gene in the pathogenesis of comorbidity between headache (especially migraine) and epilepsy. The SCN1A gene is a major gene in different epilepsies and epilepsy syndromes; the HRM could be the new methodology, more rapid and efficacious, for molecular analysis of the SCN1A gene

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

Under a Creative Commons license.Coq5 catalyzes the only C-methylation involved in the biosynthesis of coenzyme Q (Q or ubiquinone) in humans and yeast Saccharomyces cerevisiae. As one of eleven polypeptides required for Q production in yeast, Coq5 has also been shown to assemble with the multi-subunit complex termed the CoQ-synthome. In humans, mutations in several COQ genes cause primary Q deficiency, and a decrease in Q biosynthesis is associated with mitochondrial, cardiovascular, kidney and neurodegenerative diseases. In this study, we characterize the human COQ5 polypeptide and examine its complementation of yeast coq5 point and null mutants. We show that human COQ5 RNA is expressed in all tissues and that the COQ5 polypeptide is associated with the mitochondrial inner membrane on the matrix side. Previous work in yeast has shown that point mutations within or adjacent to conserved COQ5 methyltransferase motifs result in a loss of Coq5 function but not Coq5 steady state levels. Here, we show that stabilization of the CoQ-synthome within coq5 point mutants or by over-expression of COQ8 in coq5 null mutants permits the human COQ5 homolog to partially restore coq5 mutant growth on respiratory media and Q6 content. Immunoblotting against the human COQ5 polypeptide in isolated yeast mitochondria shows that the human Coq5 polypeptide migrates in two-dimensional blue-native/SDS-PAGE at the same high molecular mass as other yeast Coq proteins. The results presented suggest that human and Escherichia coli Coq5 homologs expressed in yeast retain C-methyltransferase activity but are capable of rescuing the coq5 yeast mutants only when the CoQ-synthome is assembled.Open Access funded by Telethon (Italy).Peer Reviewe

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

PMCID: PMC3983946.-- et al.[Background]: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q10 (CoQ10). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ10 deficiency. [Methods]: A complete molecular and biochemical characterisation of the patient's fibroblasts and of a yeast model were performed. [Results]: The study found reduced COQ4 expression (48% of controls), CoQ10 content and biosynthetic rate (44% and 43% of controls), and activities of respiratory chain complex II+III. Cells displayed a growth defect that was corrected by the addition of CoQ10 to the culture medium. Knockdown of COQ4 in HeLa cells also resulted in a reduction of CoQ10. Diploid yeast haploinsufficient for COQ4 displayed similar CoQ deficiency. Haploinsufficency of other genes involved in CoQ10 biosynthesis does not cause CoQ deficiency, underscoring the critical role of COQ4. Oral CoQ10 supplementation resulted in a significant improvement of neuromuscular symptoms, which reappeared after supplementation was temporarily discontinued. [Conclusion]: Mutations of COQ4 should be searched for in patients with CoQ10 deficiency and encephalomyopathy; patients with genomic rearrangements involving COQ4 should be screened for CoQ10 deficiency, as they could benefit from supplementation.This work was supported by Telethon Italy grant no GGP09207, CARIPARO foundation, the Spanish Ministerio de Sanidad (FIS) grant no PI 08/0500, University of Padova grant no 2010-CPDA102953, Italian Ministry of Health grant no GR-2009-1578914, National Institute of Health grant nos 1R01HD057543-01 and HD 32062, and Cariplo Foundation grant no 2007.5197.Peer reviewe

MODELO DE JOGO E PROCESSO DE ENSINO NO FUTEBOL: PRINCÍPIOS GLOBAIS E ESPECÍFICOS

The tactical dimension must be understood like a soccer teaching and learning center, taking an organized character, interdependency, intentionality and conscious. This article was focused in concepts and content to support a teaching-learning process, based on tactical and interdependence dimension about three basics aspects: the tactical understand methodology, the game principles and game models. At this article was also described and suggested specifics game principles and game models for different groups of youth people, which are composed by common peculiarities to team invasion sports, and own of the game culture.La dimensión táctica debe ser comprendida como un centro de enseñanza y aprendizaje en el fútbol, teniendo su organización del carácter multidimensional, intencional y consciente. Este artículo se centra en la presentación de conceptos y contenidos para apoyar  la enseñanza y aprendizaje basado en la dimensión táctica y por la interdependencia de los tres aspectos fundamentales: una metodología para la comprensión táctica del fútbol, por los principios y modelos del juego. Fueron descritos y sugeridos principios y modelos específicos del juego de fútbol, apartados por grupos de edad diferentes, que se componen de rasgos comunes a los deportes colectivos de invasión, y la cultura propia del juego.A dimensão tática deve ser entendida como centro do processo de ensino-aprendizagem no futebol, assumindo seu caráter organizativo, multidimensional, intencional e consciente. Este artigo teve como foco, apresentar conceitos e conteúdos para sustentação de um processo de ensino aprendizagem, baseado na dimensão tática e na interdependência de três aspectos fundamentais: metodologia para compreensão tática, princípios de jogo e modelos de jogo. Foram sugeridos e descritos em específico, princípios e modelos de jogo direcionados para diferentes faixas etárias, sendo estes compostos por peculiaridades comuns aos jogos esportivos coletivos de invasão

Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency

Respiratory chain complexes assemble into functional quaternary structures called supercomplexes (RCS) within the folds of the inner mitochondrial membrane, or cristae. Here, we investigate the relationship between respiratory function and mitochondrial ultrastructure and provide evidence that cristae shape determines the assembly and stability of RCS and hence mitochondrial respiratory efficiency. Genetic and apoptotic manipulations of cristae structure affect assembly and activity of RCS in vitro and in vivo, independently of changes to mitochondrial protein synthesis or apoptotic outer mitochondrial membrane permeabilization. We demonstrate that, accordingly, the efficiency of mitochondria-dependent cell growth depends on cristae shape. Thus, RCS assembly emerges as a link between membrane morphology and function.We thank A. Gross (Weizmann Institute) for anti-BID antibody, A. Latorre-Pellicer (CNIC) for mtDNA RT-PCR, and M. Albiero (VIMM) for tail vein injections. L.S. is a senior scientist of the Dulbecco-Telethon Institute. This work is supported by Telethon Italy (GGP12162, GPP10005B, and TCR02016), AIRC Italy, MOH Italy (GR 09.021), and Swiss National Foundation (31-118171). J.A.E. is supported by MINECO (SAF2012-32776 and CSD2007-00020), DGA (B55, PIPAMER O905), and CAM (S2011/BMD-2402). S.C. was supported by a Journal of Cell Science Travelling Fellowship. C.F. was supported by an AIRC Biennial Fellowship. The CNIC is funded by the Instituto de Salud Carlos III-MICINN and the Pro-CNIC Foundation.S

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Background: Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patients’ cells. Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice with mutations in COX10, another COX-assembly gene. Methods: We have investigated the effect of BZF and copper in cells with SCO2 mutations using spectrophotometric methods to analyse respiratory chain activities and a luciferase assay to measure ATP production.. Results: Individual mitochondrial enzymes displayed different responses to BZF. COX activity increased by about 40% above basal levels (both in controls and patients), with SCO2 cells reaching 75-80% COX activity compared to untreated controls. The increase in COX was paralleled by an increase in ATP production. The effect was dose-dependent: it was negligible with 100 μM BZF, and peaked at 400 μM BZF. Higher BZF concentrations were associated with a relative decline of COX activity, indicating that the therapeutic range of this drug is very narrow. Combined treatment with 100 μM CuCl2 and 200 μM BZF (which are only marginally effective when administered individually) achieved complete rescue of COX activity in SCO2 cells. Conclusions: These data are crucial to design therapeutic trials for this otherwise fatal disorder. The additive effect of copper and BZF will allow to employ lower doses of each drug and to reduce their potential toxic effects. The exact mechanism of action of BZF remains to be determined